Gardner syndrome—review and report of a case
Gardner syndrome—review and report of a case
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加德纳综合征一例回顾与报告
DOI：
10.1016/j.ooe.2005.02.001
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发表时间：
2005
期刊：
影响因子：
--
通讯作者：
S. Flint
中科院分区：
文献类型：
--
作者：
J. Butler;C. Healy;M. Toner;S. Flint
加德纳综合征是家族性腺瘤性息肉病(FAP)的一端。该综合征包括以腺瘤为主的肠息肉，以及包括骨瘤、表皮样囊肿、韧带样瘤和牙齿异常在内的结肠外特征。韧带样肿瘤虽然在组织上是良性的，但可能表现为侵袭性，并可导致某些患者的死亡。其他几种肿瘤也与加德纳综合征有关。遗传模式为常染色体显性遗传，基因座在5号染色体上。然而，20%的病例可能代表新的突变。肠息肉有100%恶变的风险，因此早期诊断至关重要。由于该疾病的结肠外表现通常先于结肠息肉，它们可能有助于及早识别受影响的患者，并允许及时干预。其中几种表现发生在口腔和颌面部，可以在常规的牙科检查中发现。我们报告一位37岁的加德纳综合症患者，先前曾接受过回肠-直肠吻合术。结肠外特征包括复发的腹部硬纤维样瘤、多发性表皮样囊肿、下颌骨和颅骨的骨瘤以及牙齿异常。
Gardner syndrome represents one end of the spectrum of the disorder known as familial adenomatous polyposis (FAP). The syndrome consists of intestinal polyps which are predominantly adenomas, together with extracolonic features including osteomas, epidermoid cysts, desmoid tumours and dental abnormalities. Desmoid tumours, although histologically benign, may behave aggressively and can cause death in some patients. Several other neoplasms are also associated with Gardner syndrome. The inheritance pattern is autosomal dominant, with a locus on chromosome 5. However, 20% of cases may represent new mutations. The intestinal polyps carry a 100% risk of malignant change, and early diagnosis is therefore essential. As the extracolonic manifestations of the disorder often precede the colonic polyps, they may facilitate early identification of affected patients and allow timely intervention. Several of these manifestations occur in the oral and maxillofacial region and may be discovered during routine dental examination. We report a case of a 37-year-old patient with Gardner syndrome, who has previously undergone a pancolectomy with ileo-rectal anastomosis. Extracolonic features include a recurrent abdominal desmoid tumour, multiple epidermoid cysts, osteomas of the mandible and skull, and dental abnormalities.